Not known Factual Statements About thr777
Not known Factual Statements About thr777
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This sequence alter impacts codon 777 of your GAA mRNA. It's a 'silent' modify, meaning that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon 16, which can be Component of the consensus splice web-site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in individuals influenced with GAA-related conditions.
Stars symbolize the review status, or the extent of overview supporting the submitted (SCV) document. This benefit is calculated by NCBI determined by info in the submitter.
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There aren't any citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, be sure to take into account submitting that facts to ClinVar.
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The volume of variants in ClinVar for this gene, which include more compact variants within the gene and bigger CNVs that overlap or entirely include the gene.
03%). This variant hasn't been documented inside the literature in folks affected with GAA-associated circumstances. ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the outcome of sequence improvements on RNA splicing propose that this variant might make or improve a splice internet site. In summary, the offered proof is at present insufficient to find out the part of the variant in sickness. Consequently, it's been categorized as a Variant of Uncertain Importance. Alright
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Stars depict the mixture critique position, or the extent of evaluate supporting the combination germline classification for this VCV history.
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